|
ENST00000256578.8:c.1454T>A
|
ENSP00000256578.4:p.Leu485Gln
|
|
|
ENST00000358729.9:c.1454T>A
|
ENSP00000351573.5:p.Leu485Gln
|
|
|
ENST00000369840.7:c.1454T>A
|
ENSP00000358855.3:p.Leu485Gln
|
|
|
ENST00000474459.6:n.2073T>A
|
|
|
|
ENST00000476688.3:c.1136T>A
|
ENSP00000437025.2:p.Leu379Gln
|
|
|
ENST00000486282.7:n.2410T>A
|
|
|
|
ENST00000524975.2:n.1935T>A
|
|
|
|
ENST00000525415.2:n.1970T>A
|
|
|
|
ENST00000526301.6:n.1517T>A
|
|
|
|
ENST00000527846.7:n.1309T>A
|
|
|
|
ENST00000528667.7:c.1454T>A
MANE Select
|
ENSP00000436541.2:p.Leu485Gln
|
|
|
ENST00000531203.6:c.1262T>A
|
ENSP00000431975.2:p.Leu421Gln
|
|
|
ENST00000531734.6:c.1373T>A
|
ENSP00000433739.2:p.Leu458Gln
|
|
|
ENST00000652975.2:c.*1206T>A
|
ENSP00000499620.2:n.*1206T>A
|
|
|
ENST00000654851.1:n.1296T>A
|
|
|
|
ENST00000655992.1:c.1262T>A
|
ENSP00000499740.1:p.Leu421Gln
|
|
|
ENST00000659122.2:c.1407+194T>A
|
ENSP00000499621.2:n.1407+194T>A
|
|
|
ENST00000663749.1:c.*1201T>A
|
ENSP00000499739.1:n.*1201T>A
|
|
|
ENST00000667949.2:c.854T>A
|
ENSP00000499465.2:p.Leu285Gln
|
|
|
ENST00000668421.1:c.*1395T>A
|
ENSP00000499362.1:n.*1395T>A
|
|
|
ENST00000679379.1:c.*1206T>A
|
ENSP00000505528.1:n.*1206T>A
|
|
|
ENST00000679593.1:c.1454T>A
|
ENSP00000505999.1:p.Leu485Gln
|
|
|
ENST00000679880.1:n.1990T>A
|
|
|
|
ENST00000679892.1:c.*1222T>A
|
ENSP00000504882.1:n.*1222T>A
|
|
|
ENST00000679981.1:c.*1468T>A
|
ENSP00000506422.1:n.*1468T>A
|
|
|
ENST00000680132.1:c.*1404T>A
|
ENSP00000505950.1:n.*1404T>A
|
|
|
ENST00000680148.1:c.*1206T>A
|
ENSP00000505994.1:n.*1206T>A
|
|
|
ENST00000680170.1:n.2319T>A
|
|
|
|
ENST00000680192.1:n.2412T>A
|
|
|
|
ENST00000680519.1:n.1690T>A
|
|
|
|
ENST00000680531.1:c.*1201T>A
|
ENSP00000506332.1:n.*1201T>A
|
|
|
ENST00000680820.1:c.*1206T>A
|
ENSP00000505735.1:n.*1206T>A
|
|
|
ENST00000680832.1:c.*1554T>A
|
ENSP00000505774.1:n.*1554T>A
|
|
|
ENST00000680929.1:c.*1143T>A
|
ENSP00000504916.1:n.*1143T>A
|
|
|
ENST00000681108.1:c.*1245+194T>A
|
ENSP00000506701.1:n.*1245+194T>A
|
|
|
ENST00000681121.1:c.*564T>A
|
ENSP00000506466.1:n.*564T>A
|
|
|
ENST00000681132.1:c.*1220T>A
|
ENSP00000506195.1:n.*1220T>A
|
|
|
ENST00000681181.1:c.*1439T>A
|
ENSP00000506038.1:n.*1439T>A
|
|
|
ENST00000681218.1:c.*1727T>A
|
ENSP00000505976.1:n.*1727T>A
|
|
|
ENST00000681246.1:c.*1110T>A
|
ENSP00000505534.1:n.*1110T>A
|
|
|
ENST00000681496.1:c.*1727T>A
|
ENSP00000505948.1:n.*1727T>A
|
|
|
ENST00000681834.1:n.1793T>A
|
|
|
|
ENST00000681862.1:c.*1580T>A
|
ENSP00000505537.1:n.*1580T>A
|
|
|
ENST00000256578.7:c.1616T>A
|
ENSP00000256578.3:p.Leu539Gln
|
|
|
ENST00000342115.8:c.1373T>A
|
ENSP00000345498.4:p.Leu458Gln
|
|
|
ENST00000358729.8:c.1391T>A
|
ENSP00000351573.4:p.Leu464Gln
|
|
|
ENST00000369840.6:c.1527T>A
|
|
|
|
ENST00000393688.7:c.1259T>A
|
ENSP00000377292.3:p.Leu420Gln
|
|
|
ENST00000526301.5:n.1655T>A
|
|
|
|
ENST00000528454.5:c.1262T>A
|
ENSP00000437164.1:p.Leu421Gln
|
|
|
ENST00000528667.5:c.1616T>A
|
ENSP00000436541.1:p.Leu539Gln
|
|
|
ENST00000532851.1:n.164T>A
|
|
|
|
ENST00000533132.1:n.156T>A
|
|
|
|
NM_001257360.1:c.1616T>A
|
NP_001244289.1:p.Leu539Gln
|
|
|
NM_001257361.1:c.1262T>A
|
NP_001244290.1:p.Leu421Gln
|
|
|
NM_001308170.1:c.1391T>A
|
NP_001295099.1:p.Leu464Gln
|
|
|
NM_004037.7:c.1616T>A
|
NP_004028.3:p.Leu539Gln
|
|
|
NM_139156.3:c.1373T>A
|
NP_631895.1:p.Leu458Gln
|
|
|
NM_203404.1:c.1259T>A
|
NP_981949.1:p.Leu420Gln
|
|
|
XM_011541247.1:c.1829T>A
|
XP_011539549.1:p.Leu610Gln
|
|
|
XM_011541248.1:c.1782+194T>A
|
XP_011539550.1:n.1782+194T>A
|
|
|
XR_946607.1:n.1852T>A
|
|
|
|
XM_024446431.1:c.1391T>A
|
XP_024302199.1:p.Leu464Gln
|
|
|
XM_024446432.1:c.1430+194T>A
|
XP_024302200.1:n.1430+194T>A
|
|
|
XR_002956282.1:n.2027T>A
|
|
|
|
NM_001257360.2:c.1616T>A
|
NP_001244289.1:p.Leu539Gln
|
|
|
NM_001368809.2:c.1454T>A
MANE Select
|
NP_001355738.1:p.Leu485Gln
|
|
|
NM_004037.9:c.1454T>A
|
NP_004028.4:p.Leu485Gln
|
|
|
NM_001257361.2:c.1262T>A
|
NP_001244290.1:p.Leu421Gln
|
|
|
NM_139156.4:c.1373T>A
|
NP_631895.1:p.Leu458Gln
|
|
